Varaico: Literature-Extracted Genetic Variants

PI3

380 papers

RefSeq Summary

This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four...

Pfam Domains

Cementoinaa 24–51UCSCTrappin protein transglutaminase binding domain

Cementoinaa 46–72UCSCTrappin protein transglutaminase binding domain

WAPaa 72–116UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

peptidase inhibitor 3

HGNC Alias Symbols

ESI; SKALP; ELAFIN; WAP3; WFDC14; cementoin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002638.4

p.R2T

c.5G>C

Surrounding Variants

1 paper

NM_002638.4

p.R2insFs

c.4_5insT

1 paper

NM_002638.4

p.M1I

c.3G>A

1 paper

NM_002638.4

p.A3V

c.8C>T

2 papers

NM_002638.4

p.M1T

c.2T>C

1 paper

NM_002638.4

p.M1Fs

c.2delinsCTGFs

1 paper

NM_002638.4

p.M1V

c.1A>G

1 paper

NM_002638.4

p.M1delFs

c.2delT

1 paper

NM_002638.4

p.S4C

c.10A>T

1 paper

NM_002638.4

p.S4_S5insFs

c.12_13insA

1 paper

NM_002638.4

p.S5N

c.14G>A

1 paper

NM_002638.4

p.S5insFs

c.14_15insA

1 paper

NM_002638.4

p.S5_F6insFs

c.15_16insA